A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961489



Internal ID18596735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112980370..112984527hg38UCSC Ensembl
Innerchr2:113737947..113742104hg19UCSC Ensembl
Innerchr2:113454418..113458575hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg384158
hg194158
hg184158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2199095, nssv2198298, nssv2199094, nssv2198297, nssv2199092, nssv2199096, nssv2198299, nssv2199097, nssv2198296, nssv2199093
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIL36G
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961489
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer